Cargando…

Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients

BACKGROUND: ANCA-associated vasculitis (AAV) and Sjögren’s syndrome (SS) are uncommon autoimmune diseases. The co-occurrence in the same patient has been rarely described. Acromegaly has been associated with autoimmune thyroiditis, but the prevalence of other autoimmune disorders such as AAV and SS...

Descripción completa

Detalles Bibliográficos
Autores principales: Fuchs, Philipp S., Lötscher, Jonas, Berkemeier, Caroline M., Hirsiger, Julia R., Ghosh, Adhideb, Li, Quan-Zhen, Deigendesch, Nikolaus, Christ, Emanuel, Navarini, Alexander A., Recher, Mike, Daikeler, Thomas, Heijnen, Ingmar A. F. M., Berger, Christoph T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779546/
https://www.ncbi.nlm.nih.gov/pubmed/33408719
http://dx.doi.org/10.3389/fimmu.2020.613130
_version_ 1783631354002407424
author Fuchs, Philipp S.
Lötscher, Jonas
Berkemeier, Caroline M.
Hirsiger, Julia R.
Ghosh, Adhideb
Li, Quan-Zhen
Deigendesch, Nikolaus
Christ, Emanuel
Navarini, Alexander A.
Recher, Mike
Daikeler, Thomas
Heijnen, Ingmar A. F. M.
Berger, Christoph T.
author_facet Fuchs, Philipp S.
Lötscher, Jonas
Berkemeier, Caroline M.
Hirsiger, Julia R.
Ghosh, Adhideb
Li, Quan-Zhen
Deigendesch, Nikolaus
Christ, Emanuel
Navarini, Alexander A.
Recher, Mike
Daikeler, Thomas
Heijnen, Ingmar A. F. M.
Berger, Christoph T.
author_sort Fuchs, Philipp S.
collection PubMed
description BACKGROUND: ANCA-associated vasculitis (AAV) and Sjögren’s syndrome (SS) are uncommon autoimmune diseases. The co-occurrence in the same patient has been rarely described. Acromegaly has been associated with autoimmune thyroiditis, but the prevalence of other autoimmune disorders such as AAV and SS has not been evaluated in acromegaly. METHODS: Characterization of a patient with acromegaly and two rare autoimmune diseases—SS and AAV (microscopic polyangiitis (MPA))—by autoantibody-array and whole exome sequencing (WES). Single-center retrospective review of medical records of acromegaly patients to explore the prevalence of diagnosed autoimmune diseases. RESULTS: We report a Caucasian woman in her 50’s with a serologically (anti-SSA/Ro, anti-MPO-ANCA antibodies) and histologically confirmed diagnosis of symptomatic SS and MPA. SS with MPO-ANCA positivity preceded MPA. An exploratory autoantigen array detected a broad spectrum of autoantibodies. WES revealed heterozygous carrier status of the PTPN22 mutation R620W, which is associated with an increased risk for autoimmunity. A similar combination of positive anti-SSA/Ro autoantibodies and ANCA was only present in 5/1184 (0.42%) other patients tested for both antibodies in our clinic over six years. Amongst 85 acromegaly patients seen at our clinic in a 20-year period, 12% had a clinically relevant associated immunological disease. CONCLUSION: We present a rare case of SS and AAV in a patient with acromegaly and multiple autoantibody specificities. Patients with SS and ANCA should be closely monitored for the development of (subclinical) AAV. Whether acromegaly represents a risk for autoimmunity should be further investigated in prospective acromegaly cohorts.
format Online
Article
Text
id pubmed-7779546
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-77795462021-01-05 Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients Fuchs, Philipp S. Lötscher, Jonas Berkemeier, Caroline M. Hirsiger, Julia R. Ghosh, Adhideb Li, Quan-Zhen Deigendesch, Nikolaus Christ, Emanuel Navarini, Alexander A. Recher, Mike Daikeler, Thomas Heijnen, Ingmar A. F. M. Berger, Christoph T. Front Immunol Immunology BACKGROUND: ANCA-associated vasculitis (AAV) and Sjögren’s syndrome (SS) are uncommon autoimmune diseases. The co-occurrence in the same patient has been rarely described. Acromegaly has been associated with autoimmune thyroiditis, but the prevalence of other autoimmune disorders such as AAV and SS has not been evaluated in acromegaly. METHODS: Characterization of a patient with acromegaly and two rare autoimmune diseases—SS and AAV (microscopic polyangiitis (MPA))—by autoantibody-array and whole exome sequencing (WES). Single-center retrospective review of medical records of acromegaly patients to explore the prevalence of diagnosed autoimmune diseases. RESULTS: We report a Caucasian woman in her 50’s with a serologically (anti-SSA/Ro, anti-MPO-ANCA antibodies) and histologically confirmed diagnosis of symptomatic SS and MPA. SS with MPO-ANCA positivity preceded MPA. An exploratory autoantigen array detected a broad spectrum of autoantibodies. WES revealed heterozygous carrier status of the PTPN22 mutation R620W, which is associated with an increased risk for autoimmunity. A similar combination of positive anti-SSA/Ro autoantibodies and ANCA was only present in 5/1184 (0.42%) other patients tested for both antibodies in our clinic over six years. Amongst 85 acromegaly patients seen at our clinic in a 20-year period, 12% had a clinically relevant associated immunological disease. CONCLUSION: We present a rare case of SS and AAV in a patient with acromegaly and multiple autoantibody specificities. Patients with SS and ANCA should be closely monitored for the development of (subclinical) AAV. Whether acromegaly represents a risk for autoimmunity should be further investigated in prospective acromegaly cohorts. Frontiers Media S.A. 2020-12-21 /pmc/articles/PMC7779546/ /pubmed/33408719 http://dx.doi.org/10.3389/fimmu.2020.613130 Text en Copyright © 2020 Fuchs, Lötscher, Berkemeier, Hirsiger, Ghosh, Li, Deigendesch, Christ, Navarini, Recher, Daikeler, Heijnen and Berger http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Fuchs, Philipp S.
Lötscher, Jonas
Berkemeier, Caroline M.
Hirsiger, Julia R.
Ghosh, Adhideb
Li, Quan-Zhen
Deigendesch, Nikolaus
Christ, Emanuel
Navarini, Alexander A.
Recher, Mike
Daikeler, Thomas
Heijnen, Ingmar A. F. M.
Berger, Christoph T.
Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients
title Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients
title_full Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients
title_fullStr Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients
title_full_unstemmed Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients
title_short Co-Occurrence of ANCA-Associated Vasculitis and Sjögren’s Syndrome in a Patient With Acromegaly: A Case Report and Retrospective Single-Center Review of Acromegaly Patients
title_sort co-occurrence of anca-associated vasculitis and sjögren’s syndrome in a patient with acromegaly: a case report and retrospective single-center review of acromegaly patients
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779546/
https://www.ncbi.nlm.nih.gov/pubmed/33408719
http://dx.doi.org/10.3389/fimmu.2020.613130
work_keys_str_mv AT fuchsphilipps cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT lotscherjonas cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT berkemeiercarolinem cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT hirsigerjuliar cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT ghoshadhideb cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT liquanzhen cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT deigendeschnikolaus cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT christemanuel cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT navarinialexandera cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT rechermike cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT daikelerthomas cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT heijneningmarafm cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients
AT bergerchristopht cooccurrenceofancaassociatedvasculitisandsjogrenssyndromeinapatientwithacromegalyacasereportandretrospectivesinglecenterreviewofacromegalypatients